Features include very common findings: Myokymia, Neuromyotonia, Distal sensory impairment, and Myotonia and others; and common findings: Abnormal foot morphology, Elevated creatine kinase (muscle enzyme) (elevated circulating creatine kinase concentration), Difficulty walking (gait disturbance), and Reduced tendon reflexes and others. 52 total HPO annotations.

HINT1 encodes histidine triad nucleotide binding protein 1 (126 aa). Exhibits adenosine 5'-monophosphoramidase activity, hydrolyzing purine nucleotide phosphoramidates with a single phosphate group such as adenosine 5'monophosphoramidate (AMP-NH2) to yield AMP and NH2. Highest expression in Cells EBV-transformed lymphocytes (328.8 TPM) and Cells Cultured fibroblasts (251.4 TPM).

Gamstorp-Wohlfart syndrome is associated with mutations in the HINT1 gene on chromosome 5.

The HINT1 protein participates in Ac-K21,K30 HINT1, HINT1:HDAC1:SIN3A:TCF/LEF:CTNNB1:CCND1 gene, and p-S207 KARS displaces HINT1 pathways.

HINT1 is classified as a druggable target with score 52.2.

Genetic testing for HINT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for Gamstorp-Wohlfart syndrome has been reported in the published literature.

Phenotype severity distribution: 7 very common features, 13 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

No clinical trials have been registered for Gamstorp-Wohlfart syndrome.

53 publications have been identified in PubMed for Gamstorp-Wohlfart syndrome. Research spans Case Report / Case Series (38%), Review / Meta-Analysis (15%), and Epidemiology / Natural History (15%).